Mutagenetix > Incidental Mutation

Incidental Mutation 'R7317:Mmp3'

563473

Institutional Source

Beutler Lab

Gene Symbol

Mmp3

Ensembl Gene

ENSMUSG00000043613

Gene Name

matrix metallopeptidase 3

Synonyms

Stmy1, SLN-1, Str1, stromelysin 1, STR-1, stromelysin-1, SLN1, progelatinase

MMRRC Submission

045369-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7445822-7455975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7446937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 39 (Y39C)

Ref Sequence

ENSEMBL: ENSMUSP00000034497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034497]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034497
AA Change: Y39C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034497
Gene: ENSMUSG00000043613
AA Change: Y39C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:PG_binding_1	29	89	1.7e-12	PFAM
ZnMc	107	267	6.24e-65	SMART
HX	298	340	4.56e-9	SMART
HX	342	385	2.87e-6	SMART
HX	390	437	4.73e-16	SMART
HX	439	479	3.3e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded protein is activated by the removal of an N-temrinal activation peptide to generate a zinc-dependent endopeptidase with a broad range of substrates such as proteoglycans, laminin, fibronectin, elastin, and collagens. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for disrutptions in this gene display abnormalities of the immune system as well as minor structural abnormalities in the neuromuscular junction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,140,202 (GRCm39)	P832L	probably benign	Het
Adamts17	C	T	7: 66,490,304 (GRCm39)	R129*	probably null	Het
Alg5	G	T	3: 54,656,752 (GRCm39)	R321L	probably benign	Het
Amotl1	T	A	9: 14,486,515 (GRCm39)	T460S	probably benign	Het
Ankrd50	T	C	3: 38,537,332 (GRCm39)	E7G	possibly damaging	Het
Ap3b2	T	C	7: 81,110,776 (GRCm39)	T1000A	unknown	Het
Arap2	G	A	5: 62,807,067 (GRCm39)	T1200M	probably damaging	Het
Asb2	A	T	12: 103,299,616 (GRCm39)	I272N	probably damaging	Het
Bicd2	T	C	13: 49,531,784 (GRCm39)	L342P	probably damaging	Het
C1qtnf6	T	A	15: 78,409,206 (GRCm39)	I214F	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,534 (GRCm39)	H587Q	probably benign	Het
Cfap70	T	A	14: 20,450,502 (GRCm39)	I1010F	possibly damaging	Het
Chd1	A	T	17: 15,962,536 (GRCm39)	K764N	possibly damaging	Het
Cluh	A	G	11: 74,556,530 (GRCm39)	D956G	possibly damaging	Het
Ehbp1l1	T	C	19: 5,770,730 (GRCm39)	D243G	probably benign	Het
Ercc4	T	C	16: 12,939,977 (GRCm39)	V169A	probably benign	Het
Erich6	T	C	3: 58,544,305 (GRCm39)	E94G	probably benign	Het
Fubp3	A	G	2: 31,494,624 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,380,305 (GRCm39)	T736I	probably damaging	Het
Garre1	A	G	7: 33,963,072 (GRCm39)	V200A	probably benign	Het
Gm14496	T	A	2: 181,637,613 (GRCm39)	M229K	possibly damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,040,521 (GRCm39)	T596A	probably benign	Het
H1f4	A	G	13: 23,806,350 (GRCm39)	I44T	probably damaging	Het
Htr5b	T	A	1: 121,438,157 (GRCm39)	Y358F	probably damaging	Het
Il18r1	A	T	1: 40,513,992 (GRCm39)	Y66F	possibly damaging	Het
Il18rap	A	G	1: 40,564,536 (GRCm39)	T189A	probably damaging	Het
Irag2	G	A	6: 145,104,424 (GRCm39)	G164R	possibly damaging	Het
Itgav	G	T	2: 83,625,327 (GRCm39)	A771S	probably benign	Het
Klf11	T	C	12: 24,705,518 (GRCm39)	V324A	possibly damaging	Het
Krtap15-1	T	C	16: 88,626,193 (GRCm39)	C87R	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Mbd5	A	G	2: 49,169,755 (GRCm39)	D1642G	probably benign	Het
Med15	G	T	16: 17,489,507 (GRCm39)	Q356K	unknown	Het
Mon2	A	G	10: 122,849,851 (GRCm39)	S1149P	probably damaging	Het
Msh3	A	G	13: 92,422,512 (GRCm39)	I548T	probably damaging	Het
Noc2l	T	A	4: 156,323,673 (GRCm39)	V179E	possibly damaging	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or5k3	T	G	16: 58,969,684 (GRCm39)	M157R	possibly damaging	Het
Or5p64	G	T	7: 107,854,425 (GRCm39)	Q307K	probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdhb10	A	T	18: 37,546,079 (GRCm39)	Q385L	possibly damaging	Het
Pdzd2	T	C	15: 12,592,329 (GRCm39)	K105R	probably damaging	Het
Pex1	A	T	5: 3,668,875 (GRCm39)	D582V	probably damaging	Het
Pheta1	A	T	5: 121,991,336 (GRCm39)	T233S	possibly damaging	Het
Pi4ka	A	G	16: 17,223,496 (GRCm39)		probably null	Het
Pigw	T	C	11: 84,768,066 (GRCm39)	N421S	probably benign	Het
Plek	T	C	11: 16,944,739 (GRCm39)	K97R	probably benign	Het
R3hcc1l	C	T	19: 42,571,979 (GRCm39)	R753*	probably null	Het
R3hdml	G	A	2: 163,344,367 (GRCm39)	W252*	probably null	Het
Septin12	T	C	16: 4,809,599 (GRCm39)	K238E	probably damaging	Het
Sgce	G	A	6: 4,691,615 (GRCm39)	T320I	probably benign	Het
Sidt2	A	T	9: 45,854,988 (GRCm39)	C562*	probably null	Het
Skint8	T	C	4: 111,796,717 (GRCm39)	C274R	possibly damaging	Het
Slc13a5	A	T	11: 72,135,953 (GRCm39)	M529K	probably damaging	Het
Smg8	T	G	11: 86,976,391 (GRCm39)	S397R	possibly damaging	Het
Spock3	G	T	8: 63,566,590 (GRCm39)	R68L	possibly damaging	Het
Stau2	T	A	1: 16,530,553 (GRCm39)	H122L	unknown	Het
Tent5a	G	C	9: 85,206,670 (GRCm39)	A376G	possibly damaging	Het
Tert	G	A	13: 73,790,495 (GRCm39)	R858H	probably damaging	Het
Tgm3	G	A	2: 129,890,211 (GRCm39)	R658Q	probably benign	Het
Tmc4	A	G	7: 3,672,918 (GRCm39)	I455T	probably benign	Het
Tmtc4	G	A	14: 123,215,593 (GRCm39)	P18S	probably benign	Het
Tnc	A	G	4: 63,890,959 (GRCm39)	I1641T	probably damaging	Het
Trav14-3	A	T	14: 54,000,951 (GRCm39)	N54I	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc5c	T	A	3: 141,495,703 (GRCm39)	M524K	probably benign	Het
Unc93a	A	G	17: 13,335,171 (GRCm39)	F292L	probably benign	Het
Uso1	A	G	5: 92,321,851 (GRCm39)	N248S	possibly damaging	Het
Usp5	A	G	6: 124,803,281 (GRCm39)	L73P	probably damaging	Het
Utp20	T	A	10: 88,598,797 (GRCm39)	I60F	possibly damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	Het

Other mutations in Mmp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Mmp3	APN	9	7,445,894 (GRCm39)	utr 5 prime	probably benign
IGL01738:Mmp3	APN	9	7,446,946 (GRCm39)	missense	possibly damaging	0.94
IGL02154:Mmp3	APN	9	7,453,662 (GRCm39)	missense	probably benign	0.19
IGL02212:Mmp3	APN	9	7,450,165 (GRCm39)	missense	probably damaging	1.00
IGL02568:Mmp3	APN	9	7,446,001 (GRCm39)	missense	probably benign	0.02
IGL03366:Mmp3	APN	9	7,450,149 (GRCm39)	missense	probably benign	0.00
R0047:Mmp3	UTSW	9	7,451,910 (GRCm39)	splice site	probably benign
R0047:Mmp3	UTSW	9	7,451,910 (GRCm39)	splice site	probably benign
R0356:Mmp3	UTSW	9	7,451,768 (GRCm39)	missense	probably benign	0.03
R0390:Mmp3	UTSW	9	7,451,320 (GRCm39)	missense	probably benign	0.29
R0401:Mmp3	UTSW	9	7,449,790 (GRCm39)	missense	probably damaging	1.00
R0466:Mmp3	UTSW	9	7,450,165 (GRCm39)	missense	probably damaging	1.00
R0549:Mmp3	UTSW	9	7,455,638 (GRCm39)	missense	probably benign	0.08
R0903:Mmp3	UTSW	9	7,445,994 (GRCm39)	missense	probably benign	0.00
R1438:Mmp3	UTSW	9	7,453,705 (GRCm39)	missense	probably benign	0.22
R1498:Mmp3	UTSW	9	7,446,967 (GRCm39)	missense	possibly damaging	0.95
R1515:Mmp3	UTSW	9	7,451,232 (GRCm39)	missense	probably benign	0.01
R1629:Mmp3	UTSW	9	7,447,641 (GRCm39)	missense	probably benign	0.00
R1844:Mmp3	UTSW	9	7,453,662 (GRCm39)	missense	probably benign	0.19
R1858:Mmp3	UTSW	9	7,451,799 (GRCm39)	missense	probably benign	0.08
R2099:Mmp3	UTSW	9	7,453,672 (GRCm39)	missense	probably benign	0.01
R2497:Mmp3	UTSW	9	7,450,131 (GRCm39)	missense	probably benign	0.00
R2571:Mmp3	UTSW	9	7,451,844 (GRCm39)	missense	possibly damaging	0.95
R4659:Mmp3	UTSW	9	7,453,673 (GRCm39)	missense	probably benign	0.00
R4687:Mmp3	UTSW	9	7,451,223 (GRCm39)	missense	probably benign	0.03
R4717:Mmp3	UTSW	9	7,449,881 (GRCm39)	missense	possibly damaging	0.94
R4930:Mmp3	UTSW	9	7,447,640 (GRCm39)	missense	probably benign	0.02
R4932:Mmp3	UTSW	9	7,446,994 (GRCm39)	missense	probably benign	0.00
R5020:Mmp3	UTSW	9	7,445,984 (GRCm39)	missense	probably benign
R5384:Mmp3	UTSW	9	7,451,759 (GRCm39)	nonsense	probably null
R5385:Mmp3	UTSW	9	7,451,759 (GRCm39)	nonsense	probably null
R5408:Mmp3	UTSW	9	7,449,904 (GRCm39)	missense	probably damaging	0.98
R6268:Mmp3	UTSW	9	7,447,622 (GRCm39)	missense	possibly damaging	0.78
R7467:Mmp3	UTSW	9	7,450,125 (GRCm39)	missense	probably benign	0.07
R7467:Mmp3	UTSW	9	7,447,621 (GRCm39)	missense	possibly damaging	0.93
R8101:Mmp3	UTSW	9	7,446,985 (GRCm39)	missense	probably benign	0.19
R9098:Mmp3	UTSW	9	7,446,936 (GRCm39)	missense	probably damaging	1.00
R9486:Mmp3	UTSW	9	7,451,256 (GRCm39)	missense	possibly damaging	0.50
X0022:Mmp3	UTSW	9	7,449,857 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CCCCTTGAAGTCATTGTTTTAATGG -3'
(R):5'- ACACCACACCTGGGCTTATG -3'

Sequencing Primer
(F):5'- AAAGTAAGTGTCTGTCAGGCTC -3'
(R):5'- GGGCTTATGCATCAGCTCCATAG -3'

Posted On

2019-06-26